Leite Cláudia, Constantino Júlio, Melo Pinto Daniela, Pinto José Carlos, Sá Milene, Pereira Jorge, Casimiro Carlos
General Surgery, Centro Hospitalar Tondela-Viseu, Viseu, Portugal.
J Surg Case Rep. 2020 Mar 2;2020(3):rjaa039. doi: 10.1093/jscr/rjaa039. eCollection 2020 Mar.
Von Recklinghausen disease (neurofibromatosis type 1-NFT1) is a genetic disorder with autosomal dominant inheritance pattern, caused by mutation of a tumour suppressor gene. Its main features include multiple cutaneous spots and neurofibromas. It is associated with an increased risk of developing neuroendocrine tumours, for instance, in the duodenum. The authors present a case of a 23-year-old male patient admitted to the emergency department due to persistent vomiting. Imaging and biopsy studies revealed an obstructive and large duodenal neuroendocrine tumour; hence the patient underwent a pancreaticoduodenectomy.
冯雷克林霍增氏病（1型神经纤维瘤病-NFT1）是一种具有常染色体显性遗传模式的遗传性疾病，由一种肿瘤抑制基因突变引起。其主要特征包括多发性皮肤斑和神经纤维瘤。它与发生神经内分泌肿瘤的风险增加有关，例如在十二指肠。作者报告了一例23岁男性患者，因持续呕吐入住急诊科。影像学和活检研究显示为阻塞性且较大的十二指肠神经内分泌肿瘤；因此该患者接受了胰十二指肠切除术。
